Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway.
Sign Up to like & getrecommendations! Published in 2022 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1895
Abstract: BACKGROUND Polydactyly and syndactyly are congenital limb deformities, segregating in an autosomal-dominant fashion. The variants in the GLI3 gene are closely related to congenital limb malformations. However, the causes underlying polydactyly and syndactyly are not… read more here.
Keywords: gli3; two families; polydactyly syndactyly; gli3 variant ... See more keywords